MCID: MTH003
MIFTS: 14

Methylmalonic Aciduria and Homocystinuria Type Cble

Categories: Genetic diseases, Metabolic diseases

Aliases & Classifications for Methylmalonic Aciduria and Homocystinuria Type Cble

MalaCards integrated aliases for Methylmalonic Aciduria and Homocystinuria Type Cble:

Name: Methylmalonic Aciduria and Homocystinuria Type Cble 12 17

Classifications:



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Disease Ontology 12 DOID:0050732

Summaries for Methylmalonic Aciduria and Homocystinuria Type Cble

Disease Ontology : 12 A methylmalonic acidemia that is characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures, has material basis in homozygous or compound heterozygous mutation in the MTRR on chromosome 5p15 that causes inborn error of vitamin B12 metabolism.

MalaCards based summary : Methylmalonic Aciduria and Homocystinuria Type Cble is related to methylmalonic aciduria and homocystinuria type cblg and homocystinuria. An important gene associated with Methylmalonic Aciduria and Homocystinuria Type Cble is MTR (5-Methyltetrahydrofolate-Homocysteine Methyltransferase), and among its related pathways/superpathways are Cytochrome P450 - arranged by substrate type and Metabolism of water-soluble vitamins and cofactors.

Related Diseases for Methylmalonic Aciduria and Homocystinuria Type Cble

Diseases related to Methylmalonic Aciduria and Homocystinuria Type Cble via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 methylmalonic aciduria and homocystinuria type cblg 9.7 MTRR MTR
2 homocystinuria 9.7 MTRR MTR
3 disorders of intracellular cobalamin metabolism 9.7 MTRR MTR
4 neural tube defects 9.6 MTRR MTR
5 neural tube defects, folate-sensitive 9.6 MTRR MTR
6 transcobalamin ii deficiency 9.6 MTRR MTR
7 homocysteinemia 9.5 MTRR MTR
8 anencephaly 9.5 MTRR MTR
9 megaloblastic anemia 9.4 MTRR MTR
10 vascular disease 9.2 MTRR MTR

Graphical network of the top 20 diseases related to Methylmalonic Aciduria and Homocystinuria Type Cble:



Diseases related to Methylmalonic Aciduria and Homocystinuria Type Cble

Symptoms & Phenotypes for Methylmalonic Aciduria and Homocystinuria Type Cble

Drugs & Therapeutics for Methylmalonic Aciduria and Homocystinuria Type Cble

Search Clinical Trials , NIH Clinical Center for Methylmalonic Aciduria and Homocystinuria Type Cble

Genetic Tests for Methylmalonic Aciduria and Homocystinuria Type Cble

Anatomical Context for Methylmalonic Aciduria and Homocystinuria Type Cble

Publications for Methylmalonic Aciduria and Homocystinuria Type Cble

Variations for Methylmalonic Aciduria and Homocystinuria Type Cble

Expression for Methylmalonic Aciduria and Homocystinuria Type Cble

Search GEO for disease gene expression data for Methylmalonic Aciduria and Homocystinuria Type Cble.

Pathways for Methylmalonic Aciduria and Homocystinuria Type Cble

Pathways related to Methylmalonic Aciduria and Homocystinuria Type Cble according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.43 MTRR MTR
2
Show member pathways
12.01 MTRR MTR
3
Show member pathways
11.7 MTRR MTR
4
Show member pathways
11.47 MTRR MTR
5
Show member pathways
11.35 MTRR MTR
6
Show member pathways
11.12 MTRR MTR
7 10.28 MTRR MTR
8
Show member pathways
9.23 MTRR MTR

GO Terms for Methylmalonic Aciduria and Homocystinuria Type Cble

Biological processes related to Methylmalonic Aciduria and Homocystinuria Type Cble according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cellular amino acid biosynthetic process GO:0008652 9.16 MTRR MTR
2 cobalamin metabolic process GO:0009235 8.96 MTRR MTR
3 methionine biosynthetic process GO:0009086 8.62 MTRR MTR

Sources for Methylmalonic Aciduria and Homocystinuria Type Cble

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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